Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.34966692A= | CA1963501671 | PDHX | c.514A= (p.Arg172=) c.694A= (p.Arg232=) c.343-17878A= (n.343-17878A=) c.649A= (p.Arg217=) | |
11 | g.34966692A>C | CA473615429 | PDHX | c.514A>C (p.Arg172=) c.694A>C (p.Arg232=) c.343-17878A>C (n.343-17878A>C) c.649A>C (p.Arg217=) | |
11 | g.34966692A>G | CA380120589 | PDHX | c.514A>G (p.Arg172Gly) c.694A>G (p.Arg232Gly) c.343-17878A>G (n.343-17878A>G) c.649A>G (p.Arg217Gly) | |
11 | g.34966692A>T | CA380120590 | PDHX | c.514A>T (p.Arg172Ter) c.694A>T (p.Arg232Ter) c.343-17878A>T (n.343-17878A>T) c.649A>T (p.Arg217Ter) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.34966693G>A | CA380120591 | PDHX | c.515G>A (p.Arg172Lys) c.695G>A (p.Arg232Lys) c.343-17877G>A (n.343-17877G>A) c.650G>A (p.Arg217Lys) | |
11 | g.34966693G>C | CA380120592 | PDHX | c.515G>C (p.Arg172Thr) c.695G>C (p.Arg232Thr) c.343-17877G>C (n.343-17877G>C) c.650G>C (p.Arg217Thr) | |
11 | g.34966693G>T | CA380120593 | PDHX | c.515G>T (p.Arg172Ile) c.695G>T (p.Arg232Ile) c.343-17877G>T (n.343-17877G>T) c.650G>T (p.Arg217Ile) | |
11 | g.34966694A= | CA1963501673 | PDHX | c.516A= (p.Arg172=) c.696A= (p.Arg232=) c.343-17876A= (n.343-17876A=) c.651A= (p.Arg217=) | |
11 | g.34966694A>C | CA380120594 | PDHX | c.516A>C (p.Arg172Ser) c.696A>C (p.Arg232Ser) c.343-17876A>C (n.343-17876A>C) c.651A>C (p.Arg217Ser) | |
11 | g.34966694A>G | CA473615431 | PDHX | c.516A>G (p.Arg172=) c.696A>G (p.Arg232=) c.343-17876A>G (n.343-17876A>G) c.651A>G (p.Arg217=) | dbSNP |
11 | g.34966694A>T | CA380120595 | PDHX | c.516A>T (p.Arg172Ser) c.696A>T (p.Arg232Ser) c.343-17876A>T (n.343-17876A>T) c.651A>T (p.Arg217Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.34966695C>A | CA380120596 | PDHX | c.517C>A (p.Pro173Thr) c.697C>A (p.Pro233Thr) c.343-17875C>A (n.343-17875C>A) c.652C>A (p.Pro218Thr) | |
11 | g.34966695C>G | CA380120597 | PDHX | c.517C>G (p.Pro173Ala) c.697C>G (p.Pro233Ala) c.343-17875C>G (n.343-17875C>G) c.652C>G (p.Pro218Ala) | |
11 | g.34966695C>T | CA380120598 | PDHX | c.517C>T (p.Pro173Ser) c.697C>T (p.Pro233Ser) c.343-17875C>T (n.343-17875C>T) c.652C>T (p.Pro218Ser) | |
11 | g.34966696C>A | CA380120601 | PDHX | c.518C>A (p.Pro173Gln) c.698C>A (p.Pro233Gln) c.343-17874C>A (n.343-17874C>A) c.653C>A (p.Pro218Gln) | |
11 | g.34966696C>G | CA380120599 | PDHX | c.518C>G (p.Pro173Arg) c.698C>G (p.Pro233Arg) c.343-17874C>G (n.343-17874C>G) c.653C>G (p.Pro218Arg) | |
11 | g.34966696C>T | CA380120600 | PDHX | c.518C>T (p.Pro173Leu) c.698C>T (p.Pro233Leu) c.343-17874C>T (n.343-17874C>T) c.653C>T (p.Pro218Leu) | |
11 | g.34966697A= | CA1963501676 | PDHX | c.519A= (p.Pro173=) c.699A= (p.Pro233=) c.343-17873A= (n.343-17873A=) c.654A= (p.Pro218=) | |
11 | g.34966697A>C | CA473615435 | PDHX | c.519A>C (p.Pro173=) c.699A>C (p.Pro233=) c.343-17873A>C (n.343-17873A>C) c.654A>C (p.Pro218=) | |
11 | g.34966697A>G | CA5945963 | PDHX | c.519A>G (p.Pro173=) c.699A>G (p.Pro233=) c.343-17873A>G (n.343-17873A>G) c.654A>G (p.Pro218=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.34966697A>T | CA473615438 | PDHX | c.519A>T (p.Pro173=) c.699A>T (p.Pro233=) c.343-17873A>T (n.343-17873A>T) c.654A>T (p.Pro218=) | |
11 | g.34966698A>C | CA380120602 | PDHX | c.520A>C (p.Thr174Pro) c.700A>C (p.Thr234Pro) c.343-17872A>C (n.343-17872A>C) c.655A>C (p.Thr219Pro) | |
11 | g.34966698A>G | CA380120603 | PDHX | c.520A>G (p.Thr174Ala) c.700A>G (p.Thr234Ala) c.343-17872A>G (n.343-17872A>G) c.655A>G (p.Thr219Ala) | |
11 | g.34966698A>T | CA380120604 | PDHX | c.520A>T (p.Thr174Ser) c.700A>T (p.Thr234Ser) c.343-17872A>T (n.343-17872A>T) c.655A>T (p.Thr219Ser) | |
11 | g.34966699C>A | CA380120605 | PDHX | c.521C>A (p.Thr174Asn) c.701C>A (p.Thr234Asn) c.343-17871C>A (n.343-17871C>A) c.656C>A (p.Thr219Asn) | |
11 | g.34966699C= | CA1963501680 | PDHX | c.521C= (p.Thr174=) c.701C= (p.Thr234=) c.343-17871C= (n.343-17871C=) c.656C= (p.Thr219=) | |
11 | g.34966699C>G | CA380120606 | PDHX | c.521C>G (p.Thr174Ser) c.701C>G (p.Thr234Ser) c.343-17871C>G (n.343-17871C>G) c.656C>G (p.Thr219Ser) | |
11 | g.34966699C>T | CA5945964 | PDHX | c.521C>T (p.Thr174Ile) c.701C>T (p.Thr234Ile) c.343-17871C>T (n.343-17871C>T) c.656C>T (p.Thr219Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.34966700T>A | CA5945966 | PDHX | c.522T>A (p.Thr174=) c.702T>A (p.Thr234=) c.343-17870T>A (n.343-17870T>A) c.657T>A (p.Thr219=) | dbSNP ExAC |
11 | g.34966700T>C | CA5945965 | PDHX | c.522T>C (p.Thr174=) c.702T>C (p.Thr234=) c.343-17870T>C (n.343-17870T>C) c.657T>C (p.Thr219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.34966700T>G | CA473615443 | PDHX | c.522T>G (p.Thr174=) c.702T>G (p.Thr234=) c.343-17870T>G (n.343-17870T>G) c.657T>G (p.Thr219=) | |
11 | g.34966700T= | CA1963501688 | PDHX | c.522T= (p.Thr174=) c.702T= (p.Thr234=) c.343-17870T= (n.343-17870T=) c.657T= (p.Thr219=) | |
11 | g.34966701C>A | CA380120607 | PDHX | c.523C>A (p.Pro175Thr) c.703C>A (p.Pro235Thr) c.343-17869C>A (n.343-17869C>A) c.658C>A (p.Pro220Thr) | |
11 | g.34966701C= | CA1963501700 | PDHX | c.523C= (p.Pro175=) c.703C= (p.Pro235=) c.343-17869C= (n.343-17869C=) c.658C= (p.Pro220=) | |
11 | g.34966701C>G | CA5945967 | PDHX | c.523C>G (p.Pro175Ala) c.703C>G (p.Pro235Ala) c.343-17869C>G (n.343-17869C>G) c.658C>G (p.Pro220Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.34966701C>T | CA380120608 | PDHX | c.523C>T (p.Pro175Ser) c.703C>T (p.Pro235Ser) c.343-17869C>T (n.343-17869C>T) c.658C>T (p.Pro220Ser) | |
11 | g.34966702C>A | CA380120610 | PDHX | c.524C>A (p.Pro175Gln) c.704C>A (p.Pro235Gln) c.343-17868C>A (n.343-17868C>A) c.659C>A (p.Pro220Gln) | |
11 | g.34966702C= | CA1963501703 | PDHX | c.524C= (p.Pro175=) c.704C= (p.Pro235=) c.343-17868C= (n.343-17868C=) c.659C= (p.Pro220=) | |
11 | g.34966702C>G | CA380120609 | PDHX | c.524C>G (p.Pro175Arg) c.704C>G (p.Pro235Arg) c.343-17868C>G (n.343-17868C>G) c.659C>G (p.Pro220Arg) | |
11 | g.34966702C>T | CA5945968 | PDHX | c.524C>T (p.Pro175Leu) c.704C>T (p.Pro235Leu) c.343-17868C>T (n.343-17868C>T) c.659C>T (p.Pro220Leu) | dbSNP ExAC |
11 | g.34966703A>C | CA473615447 | PDHX | c.525A>C (p.Pro175=) c.705A>C (p.Pro235=) c.343-17867A>C (n.343-17867A>C) c.660A>C (p.Pro220=) | |
11 | g.34966703A>G | CA473615448 | PDHX | c.525A>G (p.Pro175=) c.705A>G (p.Pro235=) c.343-17867A>G (n.343-17867A>G) c.660A>G (p.Pro220=) | gnomAD v4 COSMIC |
11 | g.34966703A>T | CA473615449 | PDHX | c.525A>T (p.Pro175=) c.705A>T (p.Pro235=) c.343-17867A>T (n.343-17867A>T) c.660A>T (p.Pro220=) | |
11 | g.34966704G>A | CA380120611 | PDHX | c.526G>A (p.Ala176Thr) c.706G>A (p.Ala236Thr) c.343-17866G>A (n.343-17866G>A) c.661G>A (p.Ala221Thr) | dbSNP |
11 | g.34966704G>C | CA220466366 | PDHX | c.526G>C (p.Ala176Pro) c.706G>C (p.Ala236Pro) c.343-17866G>C (n.343-17866G>C) c.661G>C (p.Ala221Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.34966704G= | CA1963501706 | PDHX | c.526G= (p.Ala176=) c.706G= (p.Ala236=) c.343-17866G= (n.343-17866G=) c.661G= (p.Ala221=) | |
11 | g.34966704G>T | CA380120612 | PDHX | c.526G>T (p.Ala176Ser) c.706G>T (p.Ala236Ser) c.343-17866G>T (n.343-17866G>T) c.661G>T (p.Ala221Ser) | |
11 | g.34966705C>A | CA5945970 | PDHX | c.527C>A (p.Ala176Asp) c.707C>A (p.Ala236Asp) c.343-17865C>A (n.343-17865C>A) c.662C>A (p.Ala221Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.34966705C= | CA1963501712 | PDHX | c.527C= (p.Ala176=) c.707C= (p.Ala236=) c.343-17865C= (n.343-17865C=) c.662C= (p.Ala221=) | |
11 | g.34966705C>G | CA380120614 | PDHX | c.527C>G (p.Ala176Gly) c.707C>G (p.Ala236Gly) c.343-17865C>G (n.343-17865C>G) c.662C>G (p.Ala221Gly) |